| Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for … S Hanein, I Perrault, S Gerber, G Tanguy, F Barbet, D Ducroq, P Calvas, ... Human mutation 23 (4), 306-317, 2004 | 406 | 2004 |
| Primitive reflexes and postural reactions in the neurodevelopmental examination DI Zafeiriou Pediatric neurology 31 (1), 1-8, 2004 | 333 | 2004 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 317 | 2016 |
| Childhood autism and associated comorbidities DI Zafeiriou, A Ververi, E Vargiami Brain and development 29 (5), 257-272, 2007 | 304 | 2007 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 237 | 2010 |
| Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial M Tardieu, M Zérah, ML Gougeon, J Ausseil, S de Bournonville, B Husson, ... The Lancet Neurology 16 (9), 712-720, 2017 | 202 | 2017 |
| Characteristics and prognosis of epilepsy in children with cerebral palsy DI Zafeiriou, EE Kontopoulos, I Tsikoulas Journal of child neurology 14 (5), 289-294, 1999 | 195 | 1999 |
| Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece B Héron, Y Mikaeloff, R Froissart, G Caridade, I Maire, C Caillaud, ... American journal of medical genetics Part A 155 (1), 58-68, 2011 | 180 | 2011 |
| Obstetrical brachial plexus palsy DI Zafeiriou, K Psychogiou Pediatric neurology 38 (4), 235-242, 2008 | 174 | 2008 |
| Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy J Friedman, E Roze, JE Abdenur, R Chang, S Gasperini, V Saletti, ... Annals of neurology 71 (4), 520-530, 2012 | 157 | 2012 |
| Brain and spinal MR imaging findings in mucopolysaccharidoses: a review DI Zafeiriou, SP Batzios American Journal of Neuroradiology 34 (1), 5-13, 2013 | 147 | 2013 |
| An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study ME Steenweg, C Jakobs, A Errami, SJM van Dooren, ... Human mutation 31 (4), 380-390, 2010 | 131 | 2010 |
| Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease M Biegstraaten, TM Cox, N Belmatoug, MG Berger, T Collin-Histed, ... Blood Cells, Molecules, and Diseases 68, 203-208, 2018 | 126 | 2018 |
| Autism spectrum disorders: the quest for genetic syndromes DI Zafeiriou, A Ververi, V Dafoulis, E Kalyva, E Vargiami American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 123 | 2013 |
| Childhood autism and auditory system abnormalities M Hitoglou, A Ververi, A Antoniadis, DI Zafeiriou Pediatric neurology 42 (5), 309-314, 2010 | 117 | 2010 |
| l-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients1 ME Steenweg, GS Salomons, Z Yapici, G Uziel, E Scalais, DI Zafeiriou, ... Radiology 251 (3), 856-865, 2009 | 113 | 2009 |
| The serotonergic system: its role in pathogenesis and early developmental treatment of autism DI Zafeiriou, A Ververi, E Vargiami Current neuropharmacology 7 (2), 150-157, 2009 | 101 | 2009 |
| Pediatric ischemic stroke: an infrequent complication of SARS‐CoV‐2 LA Beslow, AB Linds, CK Fox, M Kossorotoff, YC Zuñiga Zambrano, ... Annals of neurology 89 (4), 657-665, 2021 | 100 | 2021 |
| Update on transcobalamin deficiency: clinical presentation, treatment and outcome YJ Trakadis, A Alfares, OA Bodamer, M Buyukavci, J Christodoulou, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2014 | 85 | 2014 |
| Neurophysiologic and intellectual evaluation of beta-thalassemia patients M Economou, DI Zafeiriou, E Kontopoulos, N Gompakis, A Koussi, ... Brain and Development 28 (1), 14-18, 2006 | 80 | 2006 |
